Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Yu KD et al.
Anesthesiology, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss.
Perry J et al.
The Laryngoscope, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Fatal postoperative malignant hyperthermia following rhinoplasty in a patient with one variant of the ryanodine receptor 1 (RYR1) gene.
Wang JW et al.
Legal Medicine (tokyo, Japan), 2021
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
A genetic mystery in malignant hyperthermia 'solved'?
Schiemann AH et al.
British Journal of Anaesthesia, 2018
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.
Ginz HF et al.
Pharmacogenetics and Genomics, 2009
Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.
Yano M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Ibarra M CA et al.
Anesthesiology, 2006
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Sambuughin N et al.
Anesthesiology, 2005
[Current aspects of the diagnosis of malignant hyperthermia].
Rüffert H et al.
Der Anaesthesist, 2002
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
Rueffert H et al.
Acta Anaesthesiologica Scandinavica, 2002
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0